Care about Rare

Care about Rare

02.26.13 | By Stephanie Fischer

Rare Disease Day 2013Rare disease is defined as one that strikes fewer than 200,000 patients in the U.S. According to the National Human Genome Research Institute, there are 25 to 30 million patients in the U.S. with one of the 6800 rare diseases that have been identified so far. One in ten people worldwide have a rare disease. Chances are that you have a family member, friend, coworker or neighbor with a rare disease. Rare is not that rare!

Progress against Rare Disease

The rare disease community and Food and Drug Administration (FDA) reflected on the recent 30th anniversary of the Orphan Drug Act of 1983. Prior to the Orphan Drug Act, few treatments were developed for rare diseases. In 30 years since the passage of the Act, more than 400 products for rare diseases have been approved. Check out this cool timeline of 30 Years of Progress from the National Organization for Rare Disorders.

While 400 therapies for rare diseases are worth celebrating, there is a lot more to learn about rare diseases in order to better diagnose and treat them. Many are inherited and caused by gene mutations, and new rare diseases are discovered every year.

I am fortunate that as a rare disease patient, I have several treatment options to discuss with my doctor (including some that are approved by the FDA but not yet specifically for my rare condition). Many rare disease patients have no effective treatment options.

Rare Disease Therapies in the Pipeline

A report on the biopharmaceutical pipeline released last month offers good news to patients desperately waiting for new therapies. It found there are nearly 1,795 potential therapies in the pipeline for orphan diseases. A companion report by PhRMA highlighted that "the number of potential new medicines for rare diseases averaged 140 per year in the last 10 years compared to 64 in the previous decade" (as shown in the above chart from Innovation in the Biopharmaceutical Pipeline: A Multidimensional View; Analysis Group, January 2013).

Get involved in International Rare Disease Day on February 28th by visiting and share this infographic on rare disease. Global Genes and the National Organization for Rare Disorders have additional information and resources for patients.

As the Global Genes tagline says, "Hope. It's in our genes."

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